Incidental Mutation 'IGL02558:Cfap52'
ID298398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap52
Ensembl Gene ENSMUSG00000020904
Gene Namecilia and flagella associated protein 52
Synonyms4933417B11Rik, Wdr16, 1700019F09Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.551) question?
Stock #IGL02558
Quality Score
Status
Chromosome11
Chromosomal Location67924806-67965651 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67954138 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 35 (D35G)
Ref Sequence ENSEMBL: ENSMUSP00000021287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021287] [ENSMUST00000126766]
Predicted Effect probably benign
Transcript: ENSMUST00000021287
AA Change: D35G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: D35G

DomainStartEndE-ValueType
WD40 53 97 3.71e-1 SMART
WD40 100 141 3.45e-3 SMART
WD40 149 186 1.03e1 SMART
low complexity region 262 273 N/A INTRINSIC
WD40 280 318 9.86e1 SMART
WD40 321 360 6.6e1 SMART
WD40 363 402 8.56e0 SMART
WD40 405 445 2.27e-3 SMART
WD40 450 489 3.14e-6 SMART
WD40 492 530 9.21e0 SMART
WD40 533 573 6.19e-5 SMART
WD40 576 615 2.15e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126766
AA Change: D35G

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
AA Change: D35G

DomainStartEndE-ValueType
WD40 53 97 3.71e-1 SMART
WD40 100 141 3.45e-3 SMART
WD40 149 186 1.03e1 SMART
Blast:WD40 190 233 4e-12 BLAST
low complexity region 262 273 N/A INTRINSIC
WD40 280 318 9.86e1 SMART
Blast:WD40 321 342 1e-6 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A C 5: 3,582,194 *25C probably null Het
Abca13 T C 11: 9,399,387 Y3654H probably damaging Het
Ankle1 T C 8: 71,408,992 F438S probably damaging Het
Atp10a A T 7: 58,819,642 R1080S probably damaging Het
Ccdc51 A T 9: 109,092,184 N380Y probably damaging Het
Ccr8 A T 9: 120,094,658 I280F probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep162 G T 9: 87,225,726 T537N probably benign Het
Cep162 T C 9: 87,225,733 T535A probably benign Het
Cmip G A 8: 117,449,088 S530N probably damaging Het
Col9a3 A T 2: 180,606,806 probably null Het
Csf3r T C 4: 126,038,135 probably benign Het
Csk C T 9: 57,630,263 E123K probably benign Het
Csrnp3 G A 2: 66,022,229 E322K probably damaging Het
Ddx11 A T 17: 66,148,672 I663F probably damaging Het
Dnah1 T A 14: 31,274,379 M2667L possibly damaging Het
Foxred1 T C 9: 35,210,133 K40E probably damaging Het
Gata2 C T 6: 88,199,780 P74S probably benign Het
Gdf10 T G 14: 33,923,980 C29G probably benign Het
Hectd4 A G 5: 121,344,785 E3133G probably benign Het
Ints8 G A 4: 11,218,771 R784W probably damaging Het
Lrriq1 T C 10: 103,146,283 E1392G probably damaging Het
Muc19 T C 15: 91,897,622 noncoding transcript Het
Myom2 A T 8: 15,114,237 D1044V probably benign Het
Nphp4 G T 4: 152,555,531 R958L probably damaging Het
Nup205 C T 6: 35,189,924 P293S probably damaging Het
Olfr1130 T C 2: 87,607,559 I57T probably benign Het
Olfr23 A T 11: 73,940,825 H193L probably benign Het
Plxdc2 A G 2: 16,669,598 probably benign Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Siglec1 G T 2: 131,074,995 S1113R possibly damaging Het
Sirpa A G 2: 129,630,069 E472G probably damaging Het
Slc39a4 G T 15: 76,614,203 L345M probably damaging Het
Snx27 C T 3: 94,502,881 R496Q probably damaging Het
Stard9 A G 2: 120,696,907 H1215R possibly damaging Het
Stau1 A G 2: 166,950,848 Y371H probably benign Het
Sult2a1 A C 7: 13,832,595 W152G probably benign Het
Syt16 A T 12: 74,235,058 K319* probably null Het
Tcf7 T A 11: 52,253,970 probably benign Het
Tfdp1 A G 8: 13,369,546 N92D possibly damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Cfap52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:Cfap52 APN 11 67953580 missense possibly damaging 0.67
IGL02034:Cfap52 APN 11 67946292 splice site probably null
IGL02530:Cfap52 APN 11 67954181 splice site probably benign
IGL02873:Cfap52 APN 11 67931782 missense probably damaging 1.00
IGL02887:Cfap52 APN 11 67953515 missense probably damaging 1.00
IGL02956:Cfap52 APN 11 67954075 missense probably benign
IGL03068:Cfap52 APN 11 67935856 missense probably benign 0.11
IGL03216:Cfap52 APN 11 67954106 missense possibly damaging 0.81
IGL03287:Cfap52 APN 11 67935976 unclassified probably benign
IGL03370:Cfap52 APN 11 67939055 missense probably damaging 0.98
chewbacca UTSW 11 67925125 missense possibly damaging 0.95
R0103:Cfap52 UTSW 11 67925125 missense possibly damaging 0.95
R0103:Cfap52 UTSW 11 67925125 missense possibly damaging 0.95
R0244:Cfap52 UTSW 11 67926382 missense possibly damaging 0.90
R0306:Cfap52 UTSW 11 67954070 missense probably benign
R0364:Cfap52 UTSW 11 67953610 missense possibly damaging 0.80
R0440:Cfap52 UTSW 11 67954088 missense probably benign
R0565:Cfap52 UTSW 11 67949599 missense probably benign 0.00
R1068:Cfap52 UTSW 11 67939004 missense probably benign 0.10
R1082:Cfap52 UTSW 11 67925172 missense probably damaging 0.99
R1509:Cfap52 UTSW 11 67938993 missense probably benign 0.00
R1894:Cfap52 UTSW 11 67953619 critical splice acceptor site probably null
R2994:Cfap52 UTSW 11 67939791 missense probably benign
R3954:Cfap52 UTSW 11 67930865 missense probably benign
R4611:Cfap52 UTSW 11 67926421 missense probably damaging 0.99
R4922:Cfap52 UTSW 11 67931722 critical splice donor site probably null
R5624:Cfap52 UTSW 11 67927358 missense possibly damaging 0.92
R5762:Cfap52 UTSW 11 67954121 missense possibly damaging 0.71
R5970:Cfap52 UTSW 11 67930744 missense probably damaging 1.00
R6037:Cfap52 UTSW 11 67946300 missense probably benign 0.00
R6037:Cfap52 UTSW 11 67946300 missense probably benign 0.00
R6260:Cfap52 UTSW 11 67938954 missense possibly damaging 0.85
R7401:Cfap52 UTSW 11 67949633 missense probably benign 0.02
R7580:Cfap52 UTSW 11 67946320 missense probably damaging 1.00
R7831:Cfap52 UTSW 11 67935956 missense possibly damaging 0.89
R7914:Cfap52 UTSW 11 67935956 missense possibly damaging 0.89
R8303:Cfap52 UTSW 11 67939795 missense probably benign 0.00
Posted On2015-04-16